Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 8 5.3E-03 0 0
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 6.7E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 6.7E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 1 6.7E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 3 2.0E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 3 2.0E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 8 5.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 5 3.3E-03 0 0
CUI: C2751317
Disease: 46, XY Sex Reversal 5
46, XY Sex Reversal 5
1 0 1 6.7E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 4 2.7E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
1 0 1 6.7E-04 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 0 3 2.0E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 2 1.3E-03 0 0
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
2 0 1 6.7E-04 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 18 1.2E-02 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 6.7E-04 0 0
CUI: C4304505
Disease: 8p11.2 deletion syndrome
8p11.2 deletion syndrome
1 0 1 6.7E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 19 1.3E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 10 6.6E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
16 0 1 6.7E-04 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome
1 0 1 6.7E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 18 1.1E-02 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess
4 0 1 6.7E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 3 2.0E-03 0 0
CUI: C0398356
Disease: Abdominal aortic atherosclerosis
Abdominal aortic atherosclerosis
2 0 1 6.7E-04 0 0